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Thyroid hypoplasia

MedGen UID:
57720
Concept ID:
C0151516
Disease or Syndrome
Synonyms: Hypoplasia, Thyroid; Thyroid Hypoplasia
SNOMED CT: Hypoplasia of thyroid (367524008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0005990
Monarch Initiative: MONDO:0019861
OMIM®: 218700
Orphanet: ORPHA95720

Definition

Developmental hypoplasia of the thyroid gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThyroid hypoplasia
Follow this link to review classifications for Thyroid hypoplasia in Orphanet.

Conditions with this feature

Child syndrome
MedGen UID:
82697
Concept ID:
C0265267
Disease or Syndrome
The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform (yellow scaly) skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Nail changes are also common. The heart, lung, and kidneys can also be involved. CK syndrome (named for the initials of the original proband) is characterized by mild to severe cognitive impairment and behavior problems (aggression, attention deficit hyperactivity disorder, and irritability). All affected males reported have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.
Hypothyroidism, congenital, nongoitrous, 2
MedGen UID:
358389
Concept ID:
C1869118
Congenital Abnormality
Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.
Hypothyroidism, congenital, nongoitrous, 5
MedGen UID:
388687
Concept ID:
C2673630
Disease or Syndrome
Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.
Hypothyroidism due to TSH receptor mutations
MedGen UID:
487729
Concept ID:
C3493776
Disease or Syndrome
Resistance to thyroid-stimulating hormone (TSH; see 188540), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous Hypothyroidism Also see CHNG2 (218700), caused by mutation in the PAX8 gene (167415) on chromosome 2q14; CHNG3 (609893), caused by mutation in the STRTS short tandem repeat (620900) on chromosome 15q26.1; CHNG4 (275100), caused by mutation in the TSHB gene (188540) on chromosome 1p13; CHNG5 (225250), caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35; CHNG6 (614450), caused by mutation in the THRA gene (190120) on chromosome 17q21; CHNG7 (618573), caused by mutation in the TRHR gene (188545) on chromosome 8q24; CHNG8 (301033), caused by mutation in the TBL1X gene (300196) on chromosome Xp22; and CHNG9 (301035), caused by mutation in the IRS4 gene (300904) on chromosome Xq22.
Hypothyroidism, congenital, nongoitrous, 9
MedGen UID:
1684807
Concept ID:
C5231396
Disease or Syndrome
Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH) (Heinen et al., 2018).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
MedGen UID:
1824056
Concept ID:
C5774283
Disease or Syndrome
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).

Professional guidelines

PubMed

Kara C, Mammadova J, Abur Ü, Gumuskaptan C, İzci Güllü E, Dağdemir A, Aydın M
Eur Thyroid J 2023 Jun 1;12(3) Epub 2023 Apr 13 doi: 10.1530/ETJ-22-0212. PMID: 36913313Free PMC Article
Kocova M, Anastasovska V, Sukarova-Angelovska E, Tanaskoska M, Taseva E
Eur J Pediatr 2015 Apr;174(4):443-8. Epub 2014 Sep 7 doi: 10.1007/s00431-014-2413-4. PMID: 25192932
Cassio A, Nicoletti A, Rizzello A, Zazzetta E, Bal M, Baldazzi L
J Clin Res Pediatr Endocrinol 2013;5 Suppl 1(Suppl 1):29-39. Epub 2012 Nov 15 doi: 10.4274/jcrpe.864. PMID: 23154162Free PMC Article

Recent clinical studies

Etiology

Ricci S, Sarli WM, Lodi L, Canessa C, Lippi F, Azzari C, Stagi S
Genes (Basel) 2022 Aug 28;13(9) doi: 10.3390/genes13091552. PMID: 36140720Free PMC Article
Chen WJ, Ji C, Yao D, Zhao ZY
J Pediatr Endocrinol Metab 2017 Nov 27;30(12):1271-1276. doi: 10.1515/jpem-2017-0140. PMID: 29127763
Sindhuja L, Dayal D, Sodhi KS, Sachdeva N, Bhattacharya A
World J Pediatr 2016 May;12(2):215-8. Epub 2015 Dec 18 doi: 10.1007/s12519-015-0061-z. PMID: 26684308
Ramos HE, Nesi-França S, Boldarine VT, Pereira RM, Chiamolera MI, Camacho CP, Graf H, de Lacerda L, Carvalho GA, Maciel RM
Thyroid 2009 Jan;19(1):61-8. doi: 10.1089/thy.2008.0116. PMID: 18976153
Garel C, Léger J
Endocr Dev 2007;10:43-61. doi: 10.1159/000106819. PMID: 17684389

Diagnosis

Grasberger H, Refetoff S
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):183-194. Epub 2017 Mar 30 doi: 10.1016/j.beem.2017.03.004. PMID: 28648507Free PMC Article
Szinnai G
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):133-50. Epub 2013 Aug 20 doi: 10.1016/j.beem.2013.08.005. PMID: 24629857
Abduljabbar MA, Afifi AM
J Pediatr Endocrinol Metab 2012;25(1-2):13-29. doi: 10.1515/jpem.2011.408. PMID: 22570946
Persani L, Gelmini G, Marelli F, Beck-Peccoz P, Bonomi M
Ann Endocrinol (Paris) 2011 Apr;72(2):60-3. Epub 2011 Apr 21 doi: 10.1016/j.ando.2011.03.007. PMID: 21513912
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Therapy

Zwaveling-Soonawala N, Witteveen ME, Marchal JP, Klouwer FCC, Ikelaar NA, Smets AMJB, van Rijn RR, Endert E, Fliers E, van Trotsenburg ASP
Eur J Endocrinol 2017 May;176(5):505-513. Epub 2017 Jan 30 doi: 10.1530/EJE-16-0858. PMID: 28137734
Rabbiosi S, Vigone MC, Cortinovis F, Zamproni I, Fugazzola L, Persani L, Corbetta C, Chiumello G, Weber G
J Clin Endocrinol Metab 2013 Apr;98(4):1395-402. Epub 2013 Feb 20 doi: 10.1210/jc.2012-3174. PMID: 23426615
Comak E, Koyun M, Kiliçarslan-Akkaya B, Bircan I, Akman S
Turk J Pediatr 2011 Sep-Oct;53(5):586-9. PMID: 22272466
Pniewska-Siark B, Jeziorowska A, Bobeff I, Lewiński A
Endocr Regul 2006 Mar;40(1):7-14. PMID: 16964962
Grüters A, Liesenkötter KP, Zapico M, Jenner A, Dütting C, Pfeiffer E, Lehmkuhl U
Exp Clin Endocrinol Diabetes 1997;105 Suppl 4:28-31. doi: 10.1055/s-0029-1211928. PMID: 9439911

Prognosis

Kara C, Mammadova J, Abur Ü, Gumuskaptan C, İzci Güllü E, Dağdemir A, Aydın M
Eur Thyroid J 2023 Jun 1;12(3) Epub 2023 Apr 13 doi: 10.1530/ETJ-22-0212. PMID: 36913313Free PMC Article
Stoupa A, Chaabane R, Guériouz M, Raynaud-Ravni C, Nitschke P, Bole-Feysot C, Mnif M, Ammar Keskes L, Hachicha M, Belguith N, Polak M, Carré A
Thyroid 2018 Jul;28(7):941-944. doi: 10.1089/thy.2017.0502. PMID: 29790453
Abu-Khudir R, Larrivée-Vanier S, Wasserman JD, Deladoëy J
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):143-159. Epub 2017 Apr 21 doi: 10.1016/j.beem.2017.04.008. PMID: 28648504
Abduljabbar MA, Afifi AM
J Pediatr Endocrinol Metab 2012;25(1-2):13-29. doi: 10.1515/jpem.2011.408. PMID: 22570946
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Clinical prediction guides

Stoupa A, Chaabane R, Guériouz M, Raynaud-Ravni C, Nitschke P, Bole-Feysot C, Mnif M, Ammar Keskes L, Hachicha M, Belguith N, Polak M, Carré A
Thyroid 2018 Jul;28(7):941-944. doi: 10.1089/thy.2017.0502. PMID: 29790453
Chen WJ, Ji C, Yao D, Zhao ZY
J Pediatr Endocrinol Metab 2017 Nov 27;30(12):1271-1276. doi: 10.1515/jpem-2017-0140. PMID: 29127763
Khatami M, Heidari MM, Tabesh F, Ordooei M, Salehifar Z
J Pediatr Endocrinol Metab 2017 Aug 28;30(8):857-862. doi: 10.1515/jpem-2017-0084. PMID: 28749785
Garel C, Léger J
Endocr Dev 2007;10:43-61. doi: 10.1159/000106819. PMID: 17684389
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

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